LOC107126359 NUP98-HOXD13 recombination region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC107126359
Gene description: NUP98-HOXD13 recombination region
Gene type: biological region
Feature type(s): misc_recomb: mitotic
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This region is known to undergo somatic cell DNA recombination with another region, the nucleoporin 98kDa (NUP98) recombination region, located on the p arm of chromosome 11. This region is located several kilobases upstream of the homeobox D13 (HOXD13) gene. Recombination between these two regions results in a translocation known as the t(2;11)(q31;p15) rearrangement, and can produce an in-frame fusion transcript involving the nucleoporin 98kDa (NUP98) gene and homeobox D13 gene. The fusion NUP98(exon 12)-HOXD13(exon 2) transcript has been observed in some individuals with acute myeloid leukemia (AML). The exonic numbering of the fusion transcript is consistent with the exon designations given in Arai et al., 2000 (PMID:10995009). [provided by RefSeq, Jan 2016]
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Genomic context

Location:: 2q31.1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (176084885..176084994)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (176573005..176573114)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (176949613..176949722)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

t(2;11)(q31;p15) HOXD13 recombination region
t(2;11)(q31;p15) homeobox D13 recombination region

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.